WO2018121468A8 - Method, device and kit for detecting fetal genetic mutation - Google Patents

Method, device and kit for detecting fetal genetic mutation Download PDF

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Publication number
WO2018121468A8
WO2018121468A8 PCT/CN2017/118213 CN2017118213W WO2018121468A8 WO 2018121468 A8 WO2018121468 A8 WO 2018121468A8 CN 2017118213 W CN2017118213 W CN 2017118213W WO 2018121468 A8 WO2018121468 A8 WO 2018121468A8
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WO
WIPO (PCT)
Prior art keywords
kit
genetic mutation
genotypes
mutation
fetal genetic
Prior art date
Application number
PCT/CN2017/118213
Other languages
French (fr)
Chinese (zh)
Other versions
WO2018121468A1 (en
Inventor
杜洋
彭胜斌
惠峰
张晗
玄兆伶
李大为
梁峻彬
陈重建
Original Assignee
安诺优达基因科技(北京)有限公司
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by 安诺优达基因科技(北京)有限公司 filed Critical 安诺优达基因科技(北京)有限公司
Priority to MYPI2019003794A priority Critical patent/MY193127A/en
Priority to US16/474,713 priority patent/US20190338350A1/en
Priority to EP17888263.5A priority patent/EP3564391B1/en
Publication of WO2018121468A1 publication Critical patent/WO2018121468A1/en
Publication of WO2018121468A8 publication Critical patent/WO2018121468A8/en
Priority to ZA2019/04961A priority patent/ZA201904961B/en

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    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10—Ploidy or copy number detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869—Methods for sequencing
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10—Sequence alignment; Homology search
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
    • G16H50/20—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for computer-aided diagnosis, e.g. based on medical expert systems
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • Y—GENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y02—TECHNOLOGIES OR APPLICATIONS FOR MITIGATION OR ADAPTATION AGAINST CLIMATE CHANGE
    • Y02A—TECHNOLOGIES FOR ADAPTATION TO CLIMATE CHANGE
    • Y02A90/00—Technologies having an indirect contribution to adaptation to climate change
    • Y02A90/10—Information and communication technologies [ICT] supporting adaptation to climate change, e.g. for weather forecasting or climate simulation

Abstract

Provided are a method and a device for detecting a genetic mutation, and a kit for typing genotypes of a pregnant woman and a fetus. The method comprises: performing high-throughput sequencing on free DNA in a pregnant woman's peripheral blood to obtain sequencing data; comparing the sequencing data with reference genome to obtain SNP sites; performing mixed genotyping on each SNP site to obtain target genotypes for each SNP site; and selecting a mutation site that causes the gene mutation from the genotype of the fetus in the target genotypes.
PCT/CN2017/118213 2016-12-29 2017-12-25 Method, device and kit for detecting fetal genetic mutation WO2018121468A1 (en)

Priority Applications (4)

Application Number Priority Date Filing Date Title
MYPI2019003794A MY193127A (en) 2016-12-29 2017-12-25 Method, device and kit for detecting fetal genetic mutation
US16/474,713 US20190338350A1 (en) 2016-12-29 2017-12-25 Method, device and kit for detecting fetal genetic mutation
EP17888263.5A EP3564391B1 (en) 2016-12-29 2017-12-25 Method, device and kit for detecting fetal genetic mutation
ZA2019/04961A ZA201904961B (en) 2016-12-29 2019-07-29 Method, device and kit for detecting fetal gene mutation

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
CN201611270836.9 2016-12-29
CN201611270836.9A CN108277267B (en) 2016-12-29 2016-12-29 It detects the device of gene mutation and carries out the kit of parting for the genotype to pregnant woman and fetus

Publications (2)

Publication Number Publication Date
WO2018121468A1 WO2018121468A1 (en) 2018-07-05
WO2018121468A8 true WO2018121468A8 (en) 2019-07-11

Family

ID=62710889

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/CN2017/118213 WO2018121468A1 (en) 2016-12-29 2017-12-25 Method, device and kit for detecting fetal genetic mutation

Country Status (6)

Country Link
US (1) US20190338350A1 (en)
EP (1) EP3564391B1 (en)
CN (1) CN108277267B (en)
MY (1) MY193127A (en)
WO (1) WO2018121468A1 (en)
ZA (1) ZA201904961B (en)

Families Citing this family (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN111118112A (en) * 2018-10-30 2020-05-08 浙江大学 High-throughput gene expression profile detection kit
CN109493919B (en) * 2018-10-31 2023-04-14 中国石油大学(华东) Genotype assignment method based on conditional probability
CN110373458B (en) * 2019-06-27 2020-05-19 东莞博奥木华基因科技有限公司 Kit and analysis system for thalassemia detection
CN110706745B (en) * 2019-09-27 2022-05-17 北京市农林科学院 Single nucleotide polymorphism site integration method and device
CN110993025B (en) * 2019-12-20 2023-08-22 北京科迅生物技术有限公司 Method and device for quantifying fetal concentration and method and device for genotyping fetus
CN111739584B (en) * 2020-07-01 2024-02-09 苏州贝康医疗器械有限公司 Construction method and device of genotyping evaluation model for PGT-M detection
CN112779321B (en) * 2021-01-18 2021-10-29 生物岛实验室 Method and kit for detecting GCK-MODY gene mutation

Family Cites Families (9)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2008088804A1 (en) * 2007-01-17 2008-07-24 The Brigham And Women's Hospital, Inc. Genetic analyses predictive of asthma
US20130123120A1 (en) * 2010-05-18 2013-05-16 Natera, Inc. Highly Multiplex PCR Methods and Compositions
CN102329876B (en) * 2011-10-14 2014-04-02 深圳华大基因科技有限公司 Method for measuring nucleotide sequence of disease associated nucleic acid molecules in sample to be detected
CN103114150B (en) * 2013-03-11 2016-07-06 上海美吉生物医药科技有限公司 The method that storehouse order-checking is identified is built with the mononucleotide polymorphism site of Bayesian statistic based on enzyme action
CN113774132A (en) * 2014-04-21 2021-12-10 纳特拉公司 Detection of mutations and ploidy in chromosomal segments
CN104182655B (en) * 2014-09-01 2017-03-08 上海美吉生物医药科技有限公司 A kind of method for judging fetus genotype
CN104232777B (en) * 2014-09-19 2016-08-24 天津华大基因科技有限公司 Determine the method and device of fetal nucleic acid content and chromosomal aneuploidy simultaneously
CN104462869B (en) * 2014-11-28 2017-12-26 天津诺禾致源生物信息科技有限公司 The method and apparatus for detecting body cell single nucleotide mutation
US11479812B2 (en) * 2015-05-11 2022-10-25 Natera, Inc. Methods and compositions for determining ploidy

Also Published As

Publication number Publication date
US20190338350A1 (en) 2019-11-07
WO2018121468A1 (en) 2018-07-05
EP3564391B1 (en) 2021-11-24
EP3564391A4 (en) 2020-01-29
CN108277267A (en) 2018-07-13
MY193127A (en) 2022-09-26
CN108277267B (en) 2019-08-13
EP3564391A1 (en) 2019-11-06
ZA201904961B (en) 2021-06-30

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